Welander distal myopathyJoe Segen2016-11-28T13:02:19+00:00
Welander distal myopathy
An autosomal dominant myopathy (OMIM:604454) characterised by adult onset of slowly progressive weakness and wasting of the small hand muscles, which doesn’t shorten life. In the homozygous state, the onset is early and involves proximal muscles.
Molecular pathology Defects of TIA1—which encodes an RNA-binding protein that may be involved in inducing apoptosis—cause Welander distal myopathy.
Synonyms Late distal hereditary myopathy, muscular dystrophy—distal—late-onset—autosomal dominant, myopathia distalis tarda hereditaria, myopathy—distal—Swedish, Welander syndrome